Works matching DE "GENETIC testing

Results: 5000
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    Type 1 Diabetes Genetics Consortium Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 6, p. 1505, doi. 10.1210/clinem/dgaf181
    By:
    • Onengut-Gumuscu, Suna;
    • Concannon, Patrick;
    • Akolkar, Beena;
    • Erlich, Henry A;
    • Julier, Cécile;
    • Morahan, Grant;
    • Nierras, Concepcion R;
    • Pociot, Flemming;
    • Todd, John A;
    • Rich, Stephen S
    Publication type:
    Article
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    Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1524, doi. 10.1210/clinem/dgae524
    By:
    • Männistö, Jonna M E;
    • Hopkins, Jasmin J;
    • Hewat, Thomas I;
    • Nasser, Fatima;
    • Burrage, Joseph;
    • Dastamani, Antonia;
    • Mirante, Alice;
    • Murphy, Nuala;
    • Rzasa, Jessica;
    • Kerkhof, Jennifer;
    • Relator, Raissa;
    • Johnson, Matthew B;
    • Laver, Thomas W;
    • Weymouth, Luke;
    • Houghton, Jayne A L;
    • Wakeling, Matthew N;
    • Sadikovic, Bekim;
    • Dempster, Emma L;
    • Flanagan, Sarah E
    Publication type:
    Article
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    Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1573, doi. 10.1210/clinem/dgae523
    By:
    • Araujo-Castro, Marta;
    • Ruiz-Sánchez, Jorge Gabriel;
    • Gonzalvo, César;
    • Lamas, Cristina;
    • Ramírez, Paola Parra;
    • Marcos-Rojas, Patricia Martín;
    • Paja, Miguel;
    • Lázaro, Cristina Robles;
    • Michalopoulou, Theodora;
    • Tous, María;
    • Gonzalez-Boillos, M;
    • Recio-Córdova, José María;
    • Casteras, Anna;
    • Fernández-Álvarez, Paula;
    • Tierno, Verónica Barca;
    • Mulatero, Paolo
    Publication type:
    Article
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    Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 219, doi. 10.4274/jcrpe.galenos.2023.2023-3-11
    By:
    • González-Rodríguez, Juan D.;
    • Inglés-Torres, Esther Q.;
    • Cabrera-Sevilla, José E.;
    • Ibáñez-Micó, Salvador;
    • Bermejo-Costa, Francisca;
    • Vera-Carbonell, Ascensión;
    • Bafalliu-Vidal, Juan A.;
    • Cortés-Mora, Pedro;
    • Lorente-Nicolás, Ana;
    • Donate-Legaz, José María
    Publication type:
    Article
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    A Rare Homozygous AP4S1 Variant in Rwandan Siblings with Autosomal Recessive Hereditary Spastic Paraplegia Type 52 (SPG52).

    Published in:
    Genes, 2025, v. 16, n. 5, p. 542, doi. 10.3390/genes16050542
    By:
    • Niyoyita, Sylvine;
    • Uwibambe, Esther;
    • Ndinkabandi, Janvier;
    • Sesonga, Placide;
    • Niyongere, Josse Belladone;
    • Tuyishimire, Benjamin;
    • Urugwiro, Adelaide;
    • Rwamatwara, Alype;
    • Isingizwe, Gisèle;
    • Mutamuliza, Janvière;
    • Nsanzabaganwa, Christian;
    • Bukuru, John;
    • Rutagarama, Florent;
    • Mukaruziga, Agnès;
    • Karangwa, Osée;
    • Ndatinya, Augustin;
    • Nsanzabera, Maurice;
    • Dukuze, Norbert;
    • Mutesa, Léon
    Publication type:
    Article
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    The Role of Genetic and Non-Genetic Factors in the Occurrence of Cisplatin-Associated Ototoxicity.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4787, doi. 10.3390/ijms26104787
    By:
    • Iațentiuc, Andreea;
    • Iațentiuc, Iustin Mihai;
    • Frăsinariu, Otilia Elena;
    • Cozma, Sebastian Romică;
    • Bitere-Popa, Oana Roxana;
    • Olariu, Raluca;
    • Rădulescu, Luminița Mihaela;
    • Ioniuc, Ileana;
    • Cuciureanu, Magdalena;
    • Alecsa, Mirabela;
    • Guma, Constantin;
    • Miron, Ingrith Crenguța
    Publication type:
    Article
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    A Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions †.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4532, doi. 10.3390/ijms26104532
    By:
    • Tan, Vivienne J.;
    • Liang, Ying;
    • Tan, Arnold S.;
    • Wong, Simin;
    • Asherah, Nur;
    • Chua, Pengyian;
    • Lee, Caroline G.;
    • Choolani, Mahesh A.;
    • Dang, Truong;
    • Chong, Samuel S.
    Publication type:
    Article
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    Atopic March in a Case of Filaggrin Gene Mutation.

    Published in:
    Pediatric Allergy, Immunology & Pulmonology, 2025, v. 38, n. 2, p. 61, doi. 10.1089/ped.2024.0118
    By:
    • Razaghian, Anahita;
    • Moradi, Leila;
    • Allahverdi, Bahar;
    • Khansari Asadabadi, Maryam;
    • Alizadeh, Zahra;
    • Shokouhi Shoormasti, Raheleh;
    • Fazlollahi, Mohammadreza
    Publication type:
    Article
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    Sanjad Sakati syndrome: a case series from Jordan.

    Published in:
    Eastern Mediterranean Health Journal, 2012, v. 18, n. 5, p. 527, doi. 10.26719/2012.18.5.527
    By:
    • Albaramki, J.;
    • Akl, K.;
    • Al- Muhtaseb, A.;
    • Al-Shboul, M.;
    • Mahmoud, T.;
    • El-Khateeb, M.;
    • Hamamy, H.
    Publication type:
    Article
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